ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2092C>T (p.Gln698Ter)

dbSNP: rs1601544177
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008690 SCV001168469 pathogenic not provided 2019-03-01 criteria provided, single submitter clinical testing The Q698X nonsense variant in the KCNQ2 gene is predicted to cause loss of normal protein function through protein truncation as the last 175 amino acids of the protein are lost. The Q698X variant is not observed in large population cohorts (Lek et al., 2016).

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